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. 2015 Nov 2;13(5):278–289. doi: 10.1016/j.gpb.2015.08.002

Table 3.

Summary of PacBio sequencing applications and main achievements

Application Genome research Transcriptome research Epigenetics research
Advantage Closes gaps and completes genomes due to longer reads Identifies full-length transcript isoforms without need for a reference genome Detects modifications by monitoring kinetic variation
Identifies non-SNP SVs Detects novel isoforms and fusion events Detects epigenetic motifs in low coverage settings and with mixed genomes
Achievements Produced highly-contiguous assemblies of bacterial and eukaryotic genomes Identified previously-unannotated human intron structures Discovered new m6A and m4C MTases and methylation patterns in 6 bacteria
Discovered STRs and mutations associated with FMR1, brain disease, cystic fibrosis, lung cancer, and respiratory diseases Characterized alternative splicing events involved in the formation of blood cellular components Detected m6A and m5C residues in Escherichia coli; deduced target sites of MTases that catalyze m6A modifications
Discovered CDKN2A deletion breakpoints in six cancer cell lines Identified novel isoforms in hESC transcriptome using hybrid sequencing Identified virulence factor genotype-dependent motifs in Helicobacter pylori
Characterized SVs in a personal diploid human genome Quantified personal transcriptome, including novel isoforms, splice sites, and SNVs Detected intercellular heterogeneity in genome DNA modifications in Streptococcus pneumoniae
Refs. [7], [30], [31], [32], [33], [34], [40], [41], [43], [45], [46], [48], [50] [55], [56], [58], [60], [63] [35], [66], [67], [68], [70], [75], [76]

Note: STR, short tandem repeat; FMR1, fragile X mental retardation 1; CDKN2A, cyclin-dependent kinase inhibitor 2A; SV, structural variation; SNV, single nucleotide variation; MTase, methyltransferase; hESC, human embryonic stem cell.